Works matching Enzyme deficiency

Results: 3173

Why does the Iranian National Program of Screening Newborns for G6PD Enzyme Deficiency Miss a Large Number of Affected Infants?

Published in:

Pediatric Hematology & Oncology, 2014, v. 31, n. 1, p. 95, doi. 10.3109/08880018.2013.871613

By:

Kosaryan, Mehrnoush;
Mahdavi, Mohammad Reza;
Jalali, Hossein;
Roshan, Payam

Publication type:

Article

Disaccharidase Enzyme Deficiency in Adult Patients With Gas and Bloating.

Published in:

Clinical & Translational Gastroenterology, 2025, v. 16, n. 3, p. e00809, doi. 10.14309/ctg.0000000000000809

By:

Kemple, Brendan;
Rao, Satish S.C.

Publication type:

Article

مقایسه روشهاي فلورسانتنقطهاي، دکولوراسیون و اندازهگیري کمی آنزیمی در تشخیصنقصدر عملکرد آنزیمی گلوکز- 6- فسفات دهیدروژناز نوزادان

Published in:

Journal of Gorgan University of Medical Sciences, 2015, v. 17, n. 3, p. 108

By:

پیام روشن;
مهرنوشکوثریان;
محمدرضا مهدوي;
حسین جلالی

Publication type:

Article

Cochlear Implantation in Biotinidase Enzyme Deficiency.

Published in:

Indian Journal of Otolaryngology & Head & Neck Surgery, 2022, v. 74, n. 1, p. 316, doi. 10.1007/s12070-020-02105-3

By:

Castellino, Ashish;
Kurkure, Rahul;
Rayamajhi, Pabina;
Kameswaran, Mohan

Publication type:

Article

HIBCH mutations can cause Leigh-like disease with combined deficiency of multiple mitochondrial respiratory chain enzymes and pyruvate dehydrogenase.

Published in:

2013

By:

Ferdinandusse, Sacha;
Waterham, Hans R.;
Heales, Simon J. R.;
Brown, Garry K.;
Hargreaves, Iain P.;
Taanman, Jan-Willem;
Gunny, Roxana;
Abulhoul, Lara;
Wanders, Ronald J. A.;
Clayton, Peter T.;
Leonard, James V.;
Rahman, Shamima

Publication type:

journal article

Partial Enzyme Deficiencies: Residual Activities and the Development of Neurological Disorders.

Published in:

Developmental Neuroscience, 1983, v. 6, n. 1, p. 58, doi. 10.1159/000112332

By:

Conzelmann, E.;
Sandhoff, K.

Publication type:

Article

Glycogen Storage Disorder due to Glycogen Branching Enzyme (GBE) Deficiency: A Diagnostic Dilemma.

Published in:

Ultrastructural Pathology, 2015, v. 39, n. 4, p. 293, doi. 10.3109/01913123.2015.1014612

By:

Kakkar, Aanchal;
Sharma, Mehar Chand;
Nambirajan, Aruna;
Sarkar, Chitra;
Suri, Vaishali;
Gulati, Sheffali

Publication type:

Article

Side‐chain cleavage enzyme deficiency: Systematic review and case series.

Published in:

Clinical Endocrinology, 2023, v. 98, n. 3, p. 351, doi. 10.1111/cen.14848

By:

Phadte, Aditya;
Arya, Sneha;
Sarathi, Vijaya;
Lila, Anurag;
Maheshwari, Madhur;
Memon, Saba Samad;
Rane, Ankita;
Patil, Virendra;
Rai, Khushnandan;
Raghav, Darpan;
Kunwar, Ambarish;
Bandgar, Tushar

Publication type:

Article

17βHSD-3 enzyme deficiency due to novel mutations in the HSD17B3 gene diagnosed in a neonate.

Published in:

Journal of Pediatric Endocrinology & Metabolism, 2015, v. 28, n. 7/8, p. 957, doi. 10.1515/jpem-2014-0354

By:

Sagsak, Elif;
Aycan, Zehra;
Savas-Erdeve, Senay;
Keskin, Meliksah;
Cetinkaya, Semra;
Karaer, Kadri

Publication type:

Article

Dihydropyrimidinase enzyme deficiency and congenital isolated adrenocorticotrophin deficiency: dual genetic diagnosis in a Sri Lankan boy.

Published in:

Laboratory Medicine, 2025, v. 56, n. 1, p. 93, doi. 10.1093/labmed/lmae058

By:

Mohideen, Shifaniya Banu;
Fernando, Pitipanage Mihika Samindi;
Beetz, Christian;
Schroder, Sabine;
Pereira, Catarina;
Gunatilleke, Senaka;
Rathnayake, Pyara;
Jasinge, Eresha

Publication type:

Article

Normal bone health in young adults with 21-hydroxylase enzyme deficiency undergoing glucocorticoid replacement therapy.

Published in:

Osteoporosis International, 2022, v. 33, n. 1, p. 283, doi. 10.1007/s00198-021-06097-w

By:

Borges, Juliano Henrique;
de Oliveira, Daniel Minutti;
de Lemos-Marini, Sofia Helena Valente;
Geloneze, Bruno;
Guerra-Júnior, Gil;
Gonçalves, Ezequiel Moreira

Publication type:

Article

Branching Enzyme Deficiency.

Published in:

JAMA Neurology, 2014, v. 71, n. 1, p. 41, doi. 10.1001/jamaneurol.2013.4888

By:

Paradas, Carmen;
Akman, Hasan O.;
Ionete, Carolina;
Lau, Heather;
Riskind, Peter N.;
Jones, David E.;
Smith, Thomas W.;
Hirano, Michio;
DiMauro, Salvatore

Publication type:

Article

Human Metabolic Enzymes Deficiency: A Genetic Mutation Based Approach.

Published in:

Scientifica, 2016, p. 1, doi. 10.1155/2016/9828672

By:

Chaturvedi, Swati;
Singh, Ashok K.;
Keshari, Amit K.;
Maity, Siddhartha;
Sarkar, Srimanta;
Saha, Sudipta

Publication type:

Article

A rare cause of delayed puberty and primary amenorrhea: 17α-hydroxylase enzyme deficiency.

Published in:

Endocrine (1355008X), 2022, v. 75, n. 3, p. 927, doi. 10.1007/s12020-021-02914-8

By:

Beştaş, Aslı;
Bolu, Semih;
Unal, Edip;
Aktar Karakaya, Amine;
Eröz, Recep;
Tekin, Mehmet;
Haspolat, Yusuf Kenan

Publication type:

Article

Adıyaman İli Bölgesinde Psödokolinesteraz Enzim Eksikliği.

Published in:

Turkish Journal of Anesthesia & Reanimation, 2015, v. 43, n. 6, p. 381, doi. 10.5152/TJAR.2015.32848

By:

Abdullayev, Ruslan;
Küçükebe, Ömer Burak;
Kaya, Recai;
Çelik, Bülent;
Kuşderci, Hatice;
Duran, Mehmet;
Uludağ, Öznur;
Öterkuş, Mesut;
Buyrukcan, Aysel;
Sabuncu, Ülkü;
Arpacı, Abdullah

Publication type:

Article

Study on the effects of Massa Medicata Fermentata with different formulations on the intestinal microbiota and enzyme activities in mice with spleen deficiency constipation.

Published in:

Frontiers in Cellular & Infection Microbiology, 2025, p. 1, doi. 10.3389/fcimb.2024.1524327

By:

Liang, Xuejuan;
Wan, Dan;
Li, Xinliang;
Peng, Yanmei;
Chen, Linglong

Publication type:

Article

Sertraline-induced pseudocholinesterase enzyme deficiency.

Published in:

International Journal of General Medicine, 2010, v. 3, p. 375, doi. 10.2147/IJGM.S14365

By:

Zencirci, Beyazit

Publication type:

Article

Prevalence of Diamine Oxidase Enzyme (DAO) Deficiency in Subjects with Insomnia-Related Symptoms.

Published in:

Journal of Clinical Medicine, 2024, v. 13, n. 16, p. 4583, doi. 10.3390/jcm13164583

By:

López García, Raquel;
Ferrer-Garcia, Júlia;
Sansalvador, Anna;
Quera-Salva, Maria-Antonia

Publication type:

Article

A different approach to the evaluation of the genotype-phenotype relationship in biotinidase deficiency: repeated measurement of biotinidase enzyme activity.

Published in:

Journal of Pediatric Endocrinology & Metabolism, 2023, v. 36, n. 11, p. 1061, doi. 10.1515/jpem-2023-0337

By:

Sürücü Kara, İlknur;
Köse, Engin;
Koç Yekedüz, Merve;
Eminoğlu, Fatma Tuba

Publication type:

Article

Genetic burden of red cell enzyme glucose-6-phosphate dehydrogenase deficiency in two major Scheduled Tribes of Sundargarh district, Northwestern Orissa, India.

Published in:

Current Science (00113891), 2007, v. 92, n. 6, p. 768

By:

Balgir, R. S.

Publication type:

Article

Juvenile hereditary polyglucosan body disease with complete branching enzyme deficiency (type IV glycogenosis).

Published in:

Acta Neuropathologica, 1993, v. 85, n. 4, p. 419, doi. 10.1007/BF00334454

By:

Schröder, J.;
May, R.;
Shin, Y.;
Sigmund, M.;
Nase-Hüppmeier, S.

Publication type:

Article

A new variant of type IV glycogenosis with primary cardiac manifestation and complete branching enzyme deficiency.

Published in:

European Heart Journal, 1995, v. 16, n. 11, p. 1698, doi. 10.1093/oxfordjournals.eurheartj.a060797

By:

NASE, S.;
KUNZE, K. P.;
SIGMUND, M.;
SCHROEDER, J. M.;
SHIN, Y.;
HANRATH, P.

Publication type:

Article

Antioxidant enzyme deficiencies and vascular disease.

Published in:

Expert Review of Endocrinology & Metabolism, 2010, v. 5, n. 1, p. 15, doi. 10.1586/EEM.09.41

By:

Loscalzo, Joseph

Publication type:

Article

The Prevalence of Single Nucleotide Polymorphisms of the AOC1 Gene Associated with Diamine Oxidase (DAO) Enzyme Deficiency in Healthy Newborns: A Prospective Population-Based Cohort Study.

Published in:

Genes, 2025, v. 16, n. 2, p. 141, doi. 10.3390/genes16020141

By:

Fortes Marin, Emma;
Carrera Marcolin, Lydia;
Martí Melero, Laia;
Tintoré Gazulla, María;
Beltran Porres, Mireia

Publication type:

Article

Glycogen storage disease type III (glycogen debranching enzyme deficiency): correlation of biochemical defects with myopathy and cardiomyopathy.

Published in:

1992

By:

Coleman, Rosalind A.;
Winter, Harland S.;
Wolf, Barry;
Gilchrist, James M.;
Yuan-Tsong Chen;
Coleman, R A;
Winter, H S;
Wolf, B;
Gilchrist, J M;
Chen, Y T

Publication type:

journal article

P160 - MUTATIONS ANALYSIS OF 21 HYDROXYLASE ENZYME DEFICIENCIES IN PATIENTS WITH CONGENITAL ADRENAL HYPERPLAZIA IN ÇUKUROVA REGION OF TURKEY.

Published in:

2012

By:

YENİLMEZ, Ebru DÜNDAR;
BOĞA, Duygu DÜZGÜNCE;
TULİ, Abdullah;
YÜKSEL, Bilgin

Publication type:

Abstract

Risk of hyperammonemic coma in the puerperium: two cases of women with diagnosed and undiagnosed deficiency of urea cycle enzymes.

Published in:

Acta Obstetricia et Gynecologica Scandinavica, 2010, v. 89, n. 3, p. 404, doi. 10.3109/00016340903540646

By:

TIHTONEN, KATI;
UOTILA, JUKKA;
LÄHDE, JYRKI;
SALO, MATTI;
KESKINEN, PÄIVI

Publication type:

Article

Successful Management of Adenine Phosphoribosyl Transferase Enzyme Deficiency in Renal Transplantation: A Case Report.

Published in:

Indian Journal of Nephrology, 2024, v. 34, n. 4, p. 383, doi. 10.25259/ijn_167_2024

By:

Malavade, Praveen Vijaykumar

Publication type:

Article

Deficiency of Lipolytic Pancreatic Enzymes in an Adult Man.

Published in:

Digestion, 1974, v. 11, n. 1/2, p. 147, doi. 10.1159/000197577

By:

Arnesjö, B.;
Ihse, I.;
Odeberg, H.;
Ståhl, E.

Publication type:

Article

Deficiency of two enzymes of galactose metabolism in kangaroos.

Published in:

Nature, 1974, v. 248, n. 5448, p. 524, doi. 10.1038/248524a0

By:

STEPHENS, TANYA;
IRVINE, SUSAN;
MUTTON, PATRICIA;
GUPTA, J. D.;
HARLEY, J. D.

Publication type:

Article

A case of methylenetetrahydrofolate reductase deficiency enzyme deficiency carrying a novel mutation.

Published in:

Neurology & Clinical Neuroscience, 2019, v. 7, n. 5, p. 276, doi. 10.1111/ncn3.12295

By:

Khosa, Shaweta;
Girard, David;
Khosa, Gurveer S.;
Srivastava, Soma S.;
Mishra, Shri K.

Publication type:

Article

Telomerase enzyme deficiency promotes metabolic dysfunction in murine hepatocytes upon dietary stress.

Published in:

Liver International, 2018, v. 38, n. 1, p. 144, doi. 10.1111/liv.13529

By:

Alves‐Paiva, Raquel M.;
Kajigaya, Sachiko;
Feng, Xingmin;
Chen, Jichun;
Desierto, Marie;
Wong, Susan;
Townsley, Danielle M.;
Donaires, Flávia S.;
Bertola, Adeline;
Gao, Bin;
Young, Neal S.;
Calado, Rodrigo T.

Publication type:

Article

Ozone-Sensitive Arabidopsis Mutants with Deficiencies in Photorespiratory Enzymes.

Published in:

Plant & Cell Physiology, 2017, v. 58, n. 5, p. 914, doi. 10.1093/pcp/pcx027

By:

Shoko Saji;
Bathula, Srinivas;
Akihiro Kubo;
Masanori Tamaoki;
Mitsuko Aono;
Tomoharu Sano;
Kazuo Tobe;
Timm, Stefan;
Bauwe, Hermann;
Nobuyoshi Nakajima;
Hikaru Saji

Publication type:

Article

FREQUENCY OF GLUCOSE 6 PHOSPHATE DEHYDROGENASE ENZYME DEFICIENCY AMONG PATIENTS WITH NEONATAL JAUNDICE.

Published in:

Biochemical & Cellular Archives, 2021, v. 21, p. 2513

By:

Alshammary, Hussain Naji;
Ali, Zaid Mohammad;
Hamza, Widad;
Mutlaq Alwataify, Ahmed Shemran

Publication type:

Article

Circadian Genes Expression Patterns in Disorders Due to Enzyme Deficiencies in the Heme Biosynthetic Pathway.

Published in:

Biomedicines, 2022, v. 10, n. 12, p. 3198, doi. 10.3390/biomedicines10123198

By:

Savino, Maria;
Guida, Claudio Carmine;
Nardella, Maria;
Murgo, Emanuele;
Augello, Bartolomeo;
Merla, Giuseppe;
De Cosmo, Salvatore;
Savino, Antonio Fernando;
Tarquini, Roberto;
Cei, Francesco;
Aucella, Filippo;
Mazzoccoli, Gianluigi

Publication type:

Article

COVID-19: Zinc and Angiotensin-Converting Enzyme 2 (ACE2) Deficiencies as Determinants of Risk and Severity of Disease: A Narrative Review.

Published in:

Infectious Diseases & Therapy, 2021, v. 10, n. 3, p. 1215, doi. 10.1007/s40121-021-00478-8

By:

Salgo, Miklos P.

Publication type:

Article

Mitochondrial Neurogastrointestinal Encephalomyopathy Caused by Thymidine Phosphorylase Enzyme Deficiency: From Pathogenesis to Emerging Therapeutic Options.

Published in:

Frontiers in Cellular Neuroscience, 2017, v. 11, p. 1, doi. 10.3389/fncel.2017.00031

By:

Yadak, Rana;
Smitt, Peter Sillevis;
van Gisbergen, Marike W.;
van Til, Niek P.;
de Coo, Irenaeus F. M.

Publication type:

Article

Pathogenesis, laboratory diagnosis, and clinical implications of erythrocyte enzyme deficiencies in dogs, cats, and horses.

Published in:

Veterinary Clinical Pathology, 2006, v. 35, n. 2, p. 144, doi. 10.1111/j.1939-165X.2006.tb00108.x

By:

Harvey, John W.

Publication type:

Article

Identification and Characterization of Pharmacological Chaperones to Correct Enzyme Deficiencies in Lysosomal Storage Disorders.

Published in:

Assay & Drug Development Technologies, 2011, v. 9, n. 3, p. 213, doi. 10.1089/adt.2011.0370

By:

Kenneth J. Valenzano;
Richie Khanna;
Allan C. Powe;
Robert Boyd;
Gary Lee;
John J. Flanagan;
Elfrida R. Benjamin

Publication type:

Article

Three novel mutations in CYB5R3 gene causing NADH-cytochrome b5 reductase enzyme deficiency leads to recessive congenital methaemoglobinemia.

Published in:

Molecular Biology Reports, 2022, v. 49, n. 3, p. 2141, doi. 10.1007/s11033-021-07031-3

By:

Deorukhkar, Anuradha;
Kulkarni, Anuja;
Kedar, Prabhakar

Publication type:

Article

Polymorphisms in rs915941 and rs915942: Are they associated with increased risk of G6PD enzyme deficiency in the Sri Lankan population?

Published in:

Journal of the National Science Foundation of Sri Lanka, 2021, v. 49, n. 2, p. 157, doi. 10.4038/jnsfsr.v49i2.9959

By:

Dewasurendra, R.;
Sepulveda, N.;
Chandrasekharan, N.;
Karunaweera, N.;
Gunawardena, S.

Publication type:

Article

Effects of excessive nitrogen fertilizer and soil moisture deficiency on antioxidant enzyme system and osmotic adjustment in tomato seedlings.

Published in:

International Journal of Agricultural & Biological Engineering, 2022, v. 15, n. 2, p. 127, doi. 10.25165/j.ijabe.20221502.5555

By:

Yujie Zhang;
Shuangen Yu;
Zijia Li;
Tingting Chang;
Qicong Xu;
Huilian Xu;
Jie Zhang

Publication type:

Article

Erythrocyte Enzymes in Polycythemia Vera: A Comparison to Erythrocyte Enzyme Activities of Patients with Iron Deficiency Anemia.

Published in:

Acta Haematologica, 1986, v. 76, n. 1, p. 37, doi. 10.1159/000206016

By:

Avissar, Nelly;
Farkash, Yehuda;
Shaklai, Mali

Publication type:

Article

Early discoveries on enzyme deficiencies in lysosomal storage diseases: The Indian contribution.

Published in:

Journal of Biosciences, 2023, v. 48, n. 4, p. 1, doi. 10.1007/s12038-023-00394-8

By:

Gupta, Shikha;
Bachhawat, Anand K

Publication type:

Article

Acute Intermittent Porphyria in a Man with Dual Enzyme Deficiencies.

Published in:

Case Reports in Genetics, 2020, p. 1, doi. 10.1155/2020/8873219

By:

Cerbino, G. N.;
Assali, L. Abou;
Varela, L. S.;
Tomassi, L.;
Batlle, A.;
Parera, V. E.;
Rossetti, M. V.

Publication type:

Article

Functional Correction of Short-Chain Acyl-CoA Dehydrogenase Deficiency in Transgenic Mice: Implications for Gene Therapy of Human Mitochondrial Enzyme Deficiencies.

Published in:

Human Molecular Genetics, 1997, v. 6, n. 9, p. 1451, doi. 10.1093/hmg/6.9.1451

By:

Kelly, C. Lisa;
Rhead, William J.;
Kutschke, William K.;
Brix, Amy E.;
Hamm, Doug A.;
Pinkert, Carl A.;
Lindsey, J. Russell;
Wood, Philip A.

Publication type:

Article

Eyes See what the Mind Knows: Clues to Pattern Recognition in Single Enzyme Deficiency-Related Peroxisomal Disorders.

Published in:

Molecular Syndromology, 2020, v. 11, n. 5/6, p. 309, doi. 10.1159/000510480

By:

Arora, Veronica;
Bijarnia-Mahay, Sunita;
Dubey, Sudhisha;
Saxena, Renu

Publication type:

Article

Management of Athletes With G6PD Deficiency: Does Missing an Enzyme Mean Missing More Games?

Published in:

2020

By:

Stone, Shane N.;
Reisig, Karl V.;
Saffel, Heather L.;
Miles, Christopher M.

Publication type:

journal article

Deep morphological analysis of muscle biopsies from type III glycogenesis (GSDIII), debranching enzyme deficiency, revealed stereotyped vacuolar myopathy and autophagy impairment.

Published in:

Acta Neuropathologica Communications, 2019, v. 7, n. 1, p. N.PAG, doi. 10.1186/s40478-019-0815-2

By:

Laforêt, Pascal;
Inoue, Michio;
Goillot, Evelyne;
Lefeuvre, Claire;
Cagin, Umut;
Streichenberger, Nathalie;
Leonard-Louis, Sarah;
Brochier, Guy;
Madelaine, Angeline;
Labasse, Clemence;
Hedberg-Oldfors, Carola;
Krag, Thomas;
Jauze, Louisa;
Fabregue, Julien;
Labrune, Philippe;
Milisenda, Jose;
Nadaj-Pakleza, Aleksandra;
Sacconi, Sabrina;
Mingozzi, Federico;
Ronzitti, Giuseppe

Publication type:

Article

Misleading diagnosis of partial N-acetylglutamate synthase deficiency based on enzyme measurement corrected by mutation analysis.

Published in:

2005

By:

Heckmann, M.;
Wermuth, B.;
Häberle, J.;
Koch, H. G.;
Gortner, L.;
Kreuder, J. G.;
Häberle, J

Publication type:

journal article